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See other GABRD CNV Assays ›
Gene Symbol
GABRD
Assay Reference Genome
Location

Chr.1:2025584 on build GRCh38
Cytoband
1p36.33
Assay ID Hs02858126_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2563

Gene Name:

 gamma-aminobutyric acid type A receptor delta subunit

Gene Aliases:

 EIG10, EJM7, GEFSP5

Location:

 Chr.1:2019329-2030753 on Build GRCh38

Assay Gene Location:

 Within Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GABRD NM_000815.4 4 411 NP_000806.2
XM_011541194.2 4 2323 XP_011539496.1
XM_017000936.1 3 3457 XP_016856425.1
AF016917.1 4 316 AAB70007.1
AK290861.1 4 392
BC033801.1 4 327 AAH33801.1
BI824761.1 4 335
DA060315.1 4 411
DA064930.1 4 342

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv951425 Chr.1:2018162 - 2112261 on Build GRCh38 Deletion PRKCZ LOC105378591 GABRD
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss LOC105378589 SSU72 LOC148413 FAM87B AGRN FAAP20 LOC105378591 MIR1302-2 LOC105378947 LOC100288175 CCNL2 TMEM88B GABRD LOC100133331 CALML6 LOC284600 WASH7P LOC100129534 OR4F29 LOC101928626 ATAD3B MXRA8 SLC35E2B MRPL20 MIR6727 PRKCZ TAS1R3 PERM1 LOC105378948 PLEKHN1 TTLL10 LOC105378949 B3GALT6 LOC100130417 RNF223 LOC100287934 DDX11L1 FAM41C MIR200B TNFRSF18 SLC35E2 MTND2P28 GNB1 TMEM240 LOC107984841 TMEM52 VWA1 LOC102724312 LOC100506504 LOC100134822 NOC2L LOC100288069 MIB2 SAMD11 CFAP74 LOC107985728 OR4F16 ACAP3 CPSF3L SCNN1D LOC100132287 MTND1P23 LINC01128 MIR6723 ATAD3A SKI MIR6859-2 C1orf159 SDF4 LOC105378592 MIR6808 MORN1 LOC102725121 DVL1 LOC729737 MMP23B NADK ISG15 MIR429 MIR6859-1 ANKRD65 HES4 CDK11B CPTP MIR200A KLHL17 MIR6726 ATAD3C TNFRSF4 MMP23A TTLL10-AS1 LINC01342 LINC00115 LOC107985729 OR4F5 PUSL1 FAM132A CDK11A AURKAIP1 FNDC10 UBE2J2 FAM138A
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss PRKCZ LOC105378589 CFAP74 LOC105378591 GABRD
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss LOC105378589 SSU72 LOC148413 LOC105378949 ATAD3C ATAD3A LOC105378591 MMP23A LOC107985729 CCNL2 SLC35E2 GNB1 TMEM88B GABRD TMEM240 CALML6 TMEM52 MMP23B NADK VWA1 LOC102724312 ATAD3B SLC35E2B MRPL20 MIB2 PRKCZ CDK11A CFAP74 FNDC10 ANKRD65 CDK11B

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